Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis

NCT00830583 | Completed

• 1 other identifier: 08-PP-02
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

An international consensual group recommends confirming the diagnosis of the Pompe disease after a dried blood spot (DBS) with a dosage of the enzymatic activity in other tissue. This strategy is currently used in the usual practice. The aim is evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.

Conditions

Pompe's Disease

Outcome Measures

Primary Outcomes (1)

• Evaluate the prevalence of the Pompe disease among patients with progressive limb girdle muscular weakness and/or axial deficiency, and/or respiratory insufficiency. The diagnosis will be confirmed using DBS.

  during the first and the only visit

Secondary Outcomes (2)

• Evaluate the relative sensibility of the diagnosis in the Pompe disease by muscular biopsy with histological methods (PAS and acid phosphatase).

  during the first and the only visit

• Define the various methods of diagnosis for the Pompe Disease.

  during the first and the only visit

Study Arms (1)

1

OTHER

pompe's disease suspected patient

Procedure: blood test

Interventions

blood test PROCEDURE

There is only a blood test at the beginning.

1

Eligibility Criteria

• Age: 8 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Age ≥ 8 years
• The patient and/or the patient's legal representative has given their informed consent in writing before any study procedure is initiated
• Patient with :
• Limb girdle muscle weakness or axial weakness And/Or Respiratory insufficiency,With unknown etiology
• Sporadic or familial case compatible with a autosomal recessive disorder
• Patient with muscular biopsy (and specific immunologic analyses) without diagnosis.

You may not qualify if:

• Patient with a confirmed and documented diagnosis of an etiologic muscular disease determined by the histological analysis (described in appendix 6) that must have been performed on muscle biopsy.
• Patient familial background known with a X-link or a dominant transmission
• Patient who have had confirmation of a Pompe disease by biochemical analysis and/or by molecular biology
• Patient for whom an GAA enzymatic activity has already been performed and for which the result was normal.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

Claude Desnuelle

Nice, France

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Officials

• Claude Desnuelle

  Centre Hospitalier Universitaire de Nice

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 27, 2009
• First Posted: January 28, 2009
• Study Start: January 1, 2009
• Primary Completion: October 1, 2011
• Study Completion: October 1, 2011
• Last Updated: December 8, 2011

Record last verified: 2009-01

Locations

FR (1)